Variant report
| Variant | esv18885 |
|---|---|
| Chromosome Location | chrX:154555636-154556862 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:3 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000155959 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs192094899 | chrX:154555837-154555838 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs150053350 | chrX:154555867-154555868 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs144912227 | chrX:154556178-154556179 | Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs180894562 | chrX:154556226-154556227 | Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs149028161 | chrX:154556284-154556285 | Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs145901604 | chrX:154556335-154556336 | Strong transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs185174584 | chrX:154556617-154556618 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs79343404 | chrX:154556693-154556694 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs190321940 | chrX:154556741-154556742 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs182764457 | chrX:154556818-154556819 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:72)
| Disease | PMID | Source |
|---|---|---|
| Burkitt''s lymphoma | 20823134 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Schizophrenia | 23904455 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| infertile | 22614455 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Lung cancer | 18438408 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Seminomas | 18059402 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Cancer | 16751803 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Congenital abnormalities | 21549014 | CNVD |
| Developmental delay | 21549014 | CNVD |
| Mental retardation | 21549014 | CNVD |
| abnormal development | 18461090 | CNVD |
| Premature ovarian failure | 20952765 | CNVD |
| Abnormal corpus callosum | 21572526 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Cerebellar atrophy | 21569638 | CNVD |
| periventricular nodular heterotopia | 21572526 | CNVD |
| Cerebellar hypoplasia | 21569638 | CNVD |
| Hoyeraal-Hreidarsson syndrome | 21569638 | CNVD |
| Oto-palato-digital type II | 21569638 | CNVD |
| incontinentia pigmenti anhidrotic ectodermal dysplasia with immunodeficiency | 18350553 | CNVD |
| Aqueductal stenosis | 21572526 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Vermis hypoplasia | 21569638 | CNVD |
| X-linked hydrocephalus | 21569638 | CNVD |
| Rett syndrome | 21569638 | CNVD |
| Austim spectrum disorder | 21302340 | CNVD |
| Autism | 20970697 | CNVD |
| Epilepsy | 20970697 | CNVD |
| Hemophilia A | 17823971 | CNVD |
| Rett syndrome | 18923514 | CNVD |
| Rett syndrome | 22241247 | CNVD |
| Intellectual disability | 21984752 | CNVD |
| Mental retardation | 19951919 | CNVD |
| Hypotonia | 17088400 | CNVD |
| Intellectual disability | 22511893 | CNVD |
| Mental retardation | 17088400 | CNVD |
| Mental retardation | 21119712 | CNVD |
| Neurodevelopmental disorder | 19324899 | CNVD |
| Recurrent Infections | 17088400 | CNVD |
| Rett syndrome | 22283845 | CNVD |
| Rett syndrome | 21383316 | CNVD |
| Cryptorchidism | 21048976 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Congenital Hypertrichosis Syndrome | 21636067 | CNVD |
| Hemophilia A | 18787571 | CNVD |
| Hunters syndrom | 18787571 | CNVD |
| Prader-willi syndrome | 20588305 | CNVD |
| Mental retardation | 19057379 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Hereditary coagulopathy | 21993689 | CNVD |
| Intellectual disability | 23615299 | CNVD |
| Acute lymphoblastic leukemia | 22581003 | CNVD |
| Alcoholism | 21790672 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chrX:154528600-154556000 | Weak transcription | K562 | blood |
| 2 | chrX:154556000-154556400 | Strong transcription | K562 | blood |
| 3 | chrX:154556400-154560000 | Weak transcription | K562 | blood |
